{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T16:34:32Z","timestamp":1792427672971,"version":"4.5.0"},"reference-count":35,"publisher":"Georg Thieme Verlag KG","issue":"10","license":[{"start":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T00:00:00Z","timestamp":1697587200000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Neuropsiquiatr"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes according to the ethnic backgrounds and geographic origins of the populations. The aim of the present study was to analyze a series of patients with autosomal recessive LGMD (LGMD-R) to contribute to a better characterization of the disease and to find the relative proportion of the different subtypes in a Southern Brazil cohort. The sample population consisted of 36 patients with LGMD-R. A 9-gene targeted next-generation sequencing panel revealed variants in 23 patients with LGMD (64%), and it identified calpainopathy (LGMD-R1) in 26%, dysferlinopathy (LGMD-R2) in 26%, sarcoglycanopathies (LGMD-R3\u2013R5) in 13%, telethoninopathy (LGMD-R7) in 18%, dystroglicanopathy (LGMD-R9) in 13%, and anoctaminopathy (LGMD-R12) in 4% of the patients. In these 23 patients with LGMD, there were 27 different disease-related variants in the ANO5, CAPN3, DYSF, FKRP, SGCA, SGCB, SGCG, and TCAP genes. There were different causal variants in different exons of these genes, except for the TCAP gene, for which all patients carried the p.Gln53* variant, and the FKRP gene, which showed recurrence of the p.Leu276Ile variant. We analyzed the phenotypic, genotypic and muscle immunohistochemical features of this Southern Brazilian cohort.<\/jats:p>","DOI":"10.1055\/s-0043-1772833","type":"journal-article","created":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T23:38:01Z","timestamp":1699486681000},"page":"922-933","source":"Crossref","is-referenced-by-count":7,"title":["Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review"],"prefix":"10.1055","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4457-7771","authenticated-orcid":false,"given":"Paulo Jos\u00e9","family":"Lorenzoni","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0173-0809","authenticated-orcid":false,"given":"Cl\u00e1udia Suemi Kamoi","family":"Kay","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1673-5074","authenticated-orcid":false,"given":"Renata Dal-Pra","family":"Ducci","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0778-5376","authenticated-orcid":false,"given":"Otto Jesus Hernandez","family":"Fustes","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8024-0009","authenticated-orcid":false,"given":"Paula Raquel do Vale Pascoal","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8167-0844","authenticated-orcid":false,"given":"Nyvia Milicio Coblinski","family":"Hrysay","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3745-7595","authenticated-orcid":false,"given":"Raquel Cristina","family":"Arndt","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1921-1038","authenticated-orcid":false,"given":"Lineu Cesar","family":"Werneck","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3957-5317","authenticated-orcid":false,"given":"Rosana Herminia","family":"Scola","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1, Hospital de Cl\u00ednicas, Departamento de Cl\u00ednica M\u00e9dica, Servi\u00e7o de Neurologia, Servi\u00e7o de Doen\u00e7as Neuromusculares, Curitiba PR, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,10,18]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1016\/S0960-8966(03)00100-7","article-title":"The 10 autosomal recessive limb-girdle muscular dystrophies","volume":"13","author":"M Zatz","year":"2003","journal-title":"Neuromuscul Disord"},{"issue":"03","key":"ref2","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1136\/practneurol-2017-001799","article-title":"Making sense of the clinical spectrum of limb girdle muscular dystrophies","volume":"18","author":"S V Khadilkar","year":"2018","journal-title":"Pract Neurol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"S7","DOI":"10.3233\/JND-150105","article-title":"The classification, natural history and treatment of the limb girdle muscular dystrophies","volume":"2","author":"A P Murphy","year":"2015","journal-title":"J Neuromuscul Dis"},{"issue":"08","key":"ref4","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1016\/j.nmd.2018.05.007","article-title":"229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017","volume":"28","author":"V Straub","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"02","key":"ref5","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/mus.26077","article-title":"Untangling the complexity of limb-girdle muscular dystrophies","volume":"58","author":"T Liewluck","year":"2018","journal-title":"Muscle Nerve"},{"issue":"09","key":"ref6","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1080\/14737175.2018.1508997","article-title":"An update on diagnostic options and considerations in limb-girdle dystrophies","volume":"18","author":"C Angelini","year":"2018","journal-title":"Expert Rev Neurother"},{"issue":"16","key":"ref7","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1212\/WNL.0000000000000892","article-title":"Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine","volume":"83","author":"P Narayanaswami","year":"2014","journal-title":"Neurology"},{"issue":"12","key":"ref8","doi-asserted-by":"crossref","first-page":"1574","DOI":"10.1002\/acn3.649","article-title":"Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients","volume":"5","author":"B RR Nallamilli","year":"2018","journal-title":"Ann Clin Transl Neurol"},{"issue":"02","key":"ref9","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1111\/cge.13544","article-title":"Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients","volume":"96","author":"L Ten Dam","year":"2019","journal-title":"Clin Genet"},{"issue":"06","key":"ref10","doi-asserted-by":"crossref","first-page":"7874","DOI":"10.1002\/jcp.27907","article-title":"Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: A review","volume":"234","author":"E Taghizadeh","year":"2019","journal-title":"J Cell Physiol"},{"issue":"04","key":"ref11","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1111\/cge.13597","article-title":"Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy","volume":"96","author":"P B Winckler","year":"2019","journal-title":"Clin Genet"},{"issue":"01","key":"ref12","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/s13023-019-1291-2","article-title":"The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease","volume":"15","author":"J A Bevilacqua","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"3175","DOI":"10.1093\/brain\/awp236","article-title":"Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population","volume":"132","author":"F L Norwood","year":"2009","journal-title":"Brain"},{"issue":"01","key":"ref14","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/mus.25192","article-title":"The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis","volume":"55","author":"F Magri","year":"2017","journal-title":"Muscle Nerve"},{"issue":"02","key":"ref15","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/humu.20642","article-title":"Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients","volume":"29","author":"M Guglieri","year":"2008","journal-title":"Hum Mutat"},{"issue":"04","key":"ref16","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1007\/s13311-018-0648-x","article-title":"The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?","volume":"15","author":"M L Chu","year":"2018","journal-title":"Neurotherapeutics"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1590\/S0004-282X2005000200009","article-title":"Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach","volume":"63","author":"E A Comerlato","year":"2005","journal-title":"Arq Neuropsiquiatr"},{"issue":"11","key":"ref18","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1002\/mus.880141111","article-title":"Interobserver agreement in the assessment of muscle strength and functional abilities in Guillain-Barr\u00e9 syndrome","volume":"14","author":"R P Kleyweg","year":"1991","journal-title":"Muscle Nerve"},{"key":"ref19","first-page":"2","article-title":"The value of muscle biopsy in neurology: a study of 290 biopsies","volume":"10","author":"L C Werneck","year":"1981","journal-title":"Rev Bras Clin Ter"},{"issue":"12","key":"ref20","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1001\/jamaneurol.2015.2274","article-title":"Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned","volume":"72","author":"R Ghaoui","year":"2015","journal-title":"JAMA Neurol"},{"issue":"05","key":"ref21","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1002\/ana.20824","article-title":"High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark","volume":"59","author":"M L Sveen","year":"2006","journal-title":"Ann Neurol"},{"issue":"07","key":"ref22","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1002\/acn3.50801","article-title":"Clinical and molecular findings in a cohort of ANO5-related myopathy","volume":"6","author":"A MS Silva","year":"2019","journal-title":"Ann Clin Transl Neurol"},{"issue":"05","key":"ref23","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<392::AID-AJMG7>3.0.CO;2-0","article-title":"Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G","volume":"82","author":"M R Passos-Bueno","year":"1999","journal-title":"Am J Med Genet"},{"issue":"01","key":"ref24","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S0022-510X(99)00040-4","article-title":"Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population","volume":"164","author":"M Vainzof","year":"1999","journal-title":"J Neurol Sci"},{"issue":"10","key":"ref25","first-page":"1713","article-title":"Phenotypic and immunohistochemical characterization of sarcoglycanopathies","volume":"66","author":"A FB Ferreira","year":"2011","journal-title":"Clinics (S\u00e3o Paulo)"},{"issue":"01","key":"ref26","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/humu.20058","article-title":"Molecular diagnosis in LGMD2A: mutation analysis or protein testing?","volume":"24","author":"M Fanin","year":"2004","journal-title":"Hum Mutat"},{"issue":"02","key":"ref27","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/72822","article-title":"Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin","volume":"24","author":"E S Moreira","year":"2000","journal-title":"Nat Genet"},{"issue":"05","key":"ref28","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1002\/acn3.51042","article-title":"Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9","volume":"7","author":"L B Murphy","year":"2020","journal-title":"Ann Clin Transl Neurol"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"S98","DOI":"10.1002\/mus.10154","article-title":"New attempts to quantify concentric needle electromyography","volume":"11","author":"M Sonoo","year":"2002","journal-title":"Muscle Nerve Suppl"},{"issue":"02","key":"ref30","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1093\/brain\/77.2.169","article-title":"On the classification, natural history and treatment of the myopathies","volume":"77","author":"J N Walton","year":"1954","journal-title":"Brain"},{"issue":"09","key":"ref31","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1590\/0004-282X20140110","article-title":"Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?","volume":"72","author":"A Cotta","year":"2014","journal-title":"Arq Neuropsiquiatr"},{"issue":"01","key":"ref32","doi-asserted-by":"crossref","first-page":"173","DOI":"10.3349\/ymj.2016.57.1.173","article-title":"Clinical and pathological heterogeneity of Korean patients with CAPN3 mutations","volume":"57","author":"H J Park","year":"2016","journal-title":"Yonsei Med J"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"17","DOI":"10.12659\/AJCR.900970","article-title":"Polymyositis without beneficial response to steroid therapy: should Miyoshi myopathy be a diferential diagnosis?","volume":"18","author":"R S Scalco","year":"2017","journal-title":"Am J Case Rep"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.neurop.2022.03.003","article-title":"Genetic characterization of limb girdle muscular dystrophies and Pompe disease in a large Argentine cohort","volume":"2","author":"M Schiava","year":"2022","journal-title":"Neurol Perspectives"},{"issue":"06","key":"ref35","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.3390\/genes13061076","article-title":"Genetic profile of patients with limb-girdle muscle weakness in the Chilean population","volume":"13","author":"M Cerino","year":"2022","journal-title":"Genes (Basel)"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0043-1772833.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T23:39:36Z","timestamp":1699486776000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0043-1772833"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":35,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,11,8]]},"published-print":{"date-parts":[[2023,10]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0043-1772833","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0004-282X","1678-4227"],"issn-type":[{"value":"0004-282X","type":"print"},{"value":"1678-4227","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10]]}}}